{"id":"W2166005365","doi":"10.1002/pd.4279","title":"Molecular confirmation of nine cases of Cornelia de Lange syndrome diagnosed prenatally","year":2013,"lang":"en","type":"article","venue":"Prenatal Diagnosis","topic":"Genomics and Chromatin Dynamics","field":"Biochemistry, Genetics and Molecular Biology","cited_by":19,"is_retracted":false,"has_abstract":true,"ca_institutions":"Centre hospitalier universitaire de Québec; Centre Hospitalier Universitaire de Sherbrooke; Université de Sherbrooke; Cégep de Chicoutimi; Mount Sinai Hospital","funders":"","keywords":"Cornelia de Lange Syndrome; Medicine; Prenatal diagnosis; Pediatrics; Retrospective cohort study; Cohort; Obstetrics; Pregnancy; Internal medicine; Genetics; Fetus; Biology","routes":{"ca_aff":true,"ca_fund":false,"ca_venue":false,"about_ca":false,"invisible_to_affiliation_only":false},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0004813374,0.0005346342,0.0002760226,0.00169194,0.0005732895,0.0004649661,0.0005894197,0.0008399076,0.001688045],"category_scores_gemma":[0.006199209,0.0005397334,0.0002642913,0.0004515077,0.0006958977,0.0002881366,0.0005527742,0.0004703554,0.0003028683],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0004849136,"about_ca_system_score_gemma":0.0003879662,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.003080084,"about_ca_topic_score_gemma":0.001877028,"domain_scores_codex":[0.9991131,0.0001036121,0.000140177,0.0002333768,0.0002516601,0.0001580506],"domain_scores_gemma":[0.9972929,0.001240679,0.0004579805,0.000191956,0.0004417212,0.0003747404],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.00042409,0.0001717475,0.7547187,0.0001284352,0.00003892657,0.1830574,0.001582768,0.0002419692,0.04500236,0.0002481513,0.0003877617,0.01399769],"study_design_scores_gemma":[0.00008673762,0.0008416874,0.4661126,0.00006918947,0.0001094412,0.4824772,0.0009995486,0.001699521,0.04458639,0.0001722414,0.002790358,0.00005507351],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9985285,0.0001695548,0.0006836766,0.00004543826,0.00001387903,0.00001755887,0.0001136575,0.00002007053,0.0004077422],"genre_scores_gemma":[0.9988142,0.00009506014,0.000765665,0.00002477208,0.000008023427,0.00001035907,0.0001506432,0.000005769553,0.0001255336],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.003080084,"threshold_uncertainty_score":0.006124258,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.006276661025937088,"score_gpt":0.2121442994337256,"score_spread":0.2058676384077885,"validation_status":"score_only:v0-immature-baseline","note":"Baseline scores from an immature model (maturity gate not passed). Scores rank; they never assert a category."}}